Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000758124 | SCV000886602 | uncertain significance | Phenylketonuria | 2018-12-09 | reviewed by expert panel | curation | The c.1100T>G (p.Leu367Arg) variant in PAH is reported in a Chinese patient with PKU. BH4 deficiencies were not assessed/reported. (PMID: 19915519) This variant is absent in population databases. It is predicted deleterious by PolyPhen-2, MutationTaster, and SIFT. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PP4, PM2, PP3. |